Canonical Allele Identifier: CA2584900234
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38500117-TGG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38500119_38500120del , CM000681.2:g.38500119_38500120del GRCh38
NC_000019.9:g.38990759_38990760del , CM000681.1:g.38990759_38990760del GRCh37
NC_000019.8:g.43682599_43682600del NCBI36
NG_008866.1:g.71420_71421del , LRG_766:g.71420_71421del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7323+103_7323+104del ENSP00000471601.2:n.7323+103_7323+104del
ENST00000359596.8:c.7323+103_7323+104del MANE Select ENSP00000352608.2:n.7323+103_7323+104del
ENST00000355481.8:c.7323+103_7323+104del ENSP00000347667.3:n.7323+103_7323+104del
ENST00000359596.7:c.7323+103_7323+104del ENSP00000352608.2:n.7323+103_7323+104del
ENST00000360985.7:c.7320+103_7320+104del ENSP00000354254.4:n.7320+103_7320+104del
ENST00000594335.5:c.775+103_775+104del
NM_000540.2:c.7323+103_7323+104del , LRG_766t1:c.7323+103_7323+104del NP_000531.2:n.7323+103_7323+104del
NM_001042723.1:c.7323+103_7323+104del NP_001036188.1:n.7323+103_7323+104del
XM_006723317.1:c.7323+103_7323+104del XP_006723380.1:n.7323+103_7323+104del
XM_006723319.1:c.7323+103_7323+104del XP_006723382.1:n.7323+103_7323+104del
XM_011527204.1:c.7320+103_7320+104del XP_011525506.1:n.7320+103_7320+104del
XM_011527205.1:c.7323+103_7323+104del XP_011525507.1:n.7323+103_7323+104del
XM_006723317.2:c.7323+103_7323+104del XP_006723380.1:n.7323+103_7323+104del
XM_006723319.2:c.7323+103_7323+104del XP_006723382.1:n.7323+103_7323+104del
XM_011527205.2:c.7323+103_7323+104del XP_011525507.1:n.7323+103_7323+104del
XR_001753735.1:n.7406+103_7406+104del
NM_000540.3:c.7323+103_7323+104del MANE Select NP_000531.2:n.7323+103_7323+104del
NM_001042723.2:c.7323+103_7323+104del NP_001036188.1:n.7323+103_7323+104del
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